Short Chain Acyl Co-A Dehydrogenase Deficiency A Rare Inborn Error Of Metabolism

Rajeshwari, SG and Choudhry, Afreen Arshad and Prasad, Anushre and Lewis, Leslie and Shenoy, Revathi P and Rao, Pragna (2014) Short Chain Acyl Co-A Dehydrogenase Deficiency A Rare Inborn Error Of Metabolism. National Journal of Integrated Research in Medicine, 5 (1). pp. 125-127. ISSN 0975 - 9840

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Abstract

Background & objectives :Short chain acyl coenzyme A dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid β oxidation. The energy producing fatty acid oxidation pathway is affected at the first step due to deficiency of short chain acyl coA dehydrogenase and is manifested as lethargy, metabolic acidosis and hypoglycaemia. We report a case ofeight day old male neonate born to 32 year old female by caesarean delivery diagnosed with SCADD.Investigations: Blood investigations of haematology, serum electrolytes, and enzymes levels were done. Metabolic screening for TSH,galactos aemia, blood ammonia was also conducted. Results: Serum sample revealed elevated acyl carnitine levels and urine analysis for organic acid showed slightly elevated Methyl malonic acid. The neonate was mechanically ventilated and metabolic acidosis was corrected with 8.4 % sodium bicarbonate andintravenous dextrose.Carnitor syrup 5ml/500mg was started once daily and the neonate improved in general activity along with weight gain.Conclusion:Neonatal screening by biochemical method facilitates earlier diagnosis and, along with effective management prevents morbidity and prolongs survival.

Item Type: Article
Uncontrolled Keywords: SCADD; Fatty acid oxidation; Inborn errors of metabolism
Subjects: Medicine > KMC Manipal > Biochemistry
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 05 Mar 2014 04:16
Last Modified: 05 Mar 2014 04:16
URI: http://eprints.manipal.edu/id/eprint/138998

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